Hyperinsulinemic Hypoglycemia, Familial, 7; Hhf7

Description

Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.

Clinical Features

Phenotypes and symptoms related to Hyperinsulinemic Hypoglycemia, Familial, 7; Hhf7

  • Seizures
  • Neoplasm
  • Hypoglycemia
  • Syncope
  • Recurrent hypoglycemia
  • Neoplasm of the endocrine system
  • Hyperinsulinemic hypoglycemia
  • Hypoglycemic seizures
  • Pancreatic islet-cell hyperplasia
  • Hypoglycemic coma

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hyperinsulinemic Hypoglycemia, Familial, 7; Hhf7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Level 2: Expanded Congenital Hyperinsulinism Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

SLC16A1, GCK, GLUD1, ABCC8, KCNJ11, HADH
Specificity
17 %
Genes
100 %
Comprehensive Familial Hyperinsulinism Panel.

By Genetic Services Laboratory University of Chicago in United States.

HNF1A, SLC16A1, GCK, PGM1, UCP2, GLUD1, PMM2, ABCC8, KCNJ11, HNF4A, KMT2D, KDM6A, HADH, INSR
Specificity
8 %
Genes
100 %
Ketotic Hypoglycemia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Ketotic Hypoglycemia Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Ketotic Hypoglycemia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
12 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
12 %
Genes
100 %
Hyperinsulinemic hypoglycemia, familial, 7.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC16A1
Specificity
100 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Congenital Hyperinsulinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH
Specificity
12 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
SLC16A1.

By Department of Clinical Genetics Odense University Hospital in Denmark.

SLC16A1
Specificity
100 %
Genes
100 %
Erythrocyte lactate transporter defect.

By Centogene AG - the Rare Disease Company in Germany.

SLC16A1
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia type 7.

By Centogene AG - the Rare Disease Company in Germany.

SLC16A1
Specificity
100 %
Genes
100 %
Monocarboxylate transporter 1 deficiency.

By Centogene AG - the Rare Disease Company in Germany.

SLC16A1
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathies Panel.

By CeGaT GmbH in Germany.

ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, YARS2, GAA, SLC16A1, CPT2, RRM2B, HADHA, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Monocarboxylate transporter 1 deficiency (SLC16A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC16A1
Specificity
100 %
Genes
100 %
FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, OTC, SLC25A15, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
9 %
Genes
100 %
Hyperinsulinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, HADH, INSR
Specificity
10 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
SLC16A1.

By Fulgent Genetics Fulgent Genetics in United States.

SLC16A1
Specificity
100 %
Genes
100 %
Comprehensive Monogenic Diabetes Panel.

By Blueprint Genetics in Finland.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, RFX6, PAX4, KLF11 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Familial Hyperinsulinism NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
10 %
Genes
100 %
SLC16A1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC16A1
Specificity
100 %
Genes
100 %
Monogenic Diabetes NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, PAX4, KLF11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, OTC, SLC25A15, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
9 %
Genes
100 %
Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

SLC16A1, GCK, GLUD1, ABCC8, KCNJ11, HADH, INSR
Specificity
15 %
Genes
100 %

Alternate names

Hyperinsulinemic Hypoglycemia, Familial, 7; Hhf7 Is also known as hyperinsulinemic hypoglycemia, exercise-induced;eihi; exercise-induced hyperinsulinemic hypoglycemia; hyperinsulinism due to slc16a1 deficiency; hyperinsulinism due to monocarboxylate transporter 1 deficiency.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5 DYSTONIA 11, MYOCLONIC; DYT11

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more